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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome  
pontocerebellar hypoplasia type 1 +   
pontocerebellar hypoplasia type 10  
pontocerebellar hypoplasia type 11  
pontocerebellar hypoplasia type 12  
pontocerebellar hypoplasia type 13  
pontocerebellar hypoplasia type 14  
pontocerebellar hypoplasia type 15  
pontocerebellar hypoplasia type 16  
pontocerebellar hypoplasia type 17  
pontocerebellar hypoplasia type 2 +   
pontocerebellar hypoplasia type 3  
pontocerebellar hypoplasia type 4  
pontocerebellar hypoplasia type 5  
A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO)
pontocerebellar hypoplasia type 6  
pontocerebellar hypoplasia type 7  
pontocerebellar hypoplasia type 8  
pontocerebellar hypoplasia type 9  

Synonyms
Exact Synonyms: PCH5 ;   fetal-onset olivopontocerebellar hypoplasia
Primary IDs: MESH:C537745
Alternate IDs: OMIM:610204
Xrefs: GARD:10709 ;   ORDO:166068
Definition Sources: https://www.omim.org/entry/610204 "DO" "DO"

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